nsv4376482
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:73,872
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 230 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376482 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 135,593,771 | 135,667,642 |
| nsv4376482 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 135,312,613 | 135,386,484 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15678986 | copy number gain | 240259S | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15678986 | Remapped | Perfect | NC_000003.12:g.(?_ 135593771)_(135667 642_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 135,593,771 | 135,667,642 |
| nssv15678986 | Submitted genomic | NC_000003.11:g.(?_ 135312613)_(135386 484_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 135,312,613 | 135,386,484 |